ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.652G>A (p.Asp218Asn)

gnomAD frequency: 0.00496  dbSNP: rs140785104
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178927 SCV000231108 benign not specified 2015-02-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000335274 SCV000388983 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2N 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000553857 SCV000514254 likely benign not provided 2020-11-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000178927 SCV000614759 benign not specified 2024-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081717 SCV000649945 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000553857 SCV005217784 likely benign not provided criteria provided, single submitter not provided

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