ClinVar Miner

Submissions for variant NM_031220.4(PITPNM3):c.2355G>A (p.Pro785=)

gnomAD frequency: 0.00062  dbSNP: rs146899730
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175369 SCV000226842 uncertain significance not provided 2015-05-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000291683 SCV000405817 benign Cone-rod dystrophy 5 2018-01-12 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000175369 SCV001056599 likely benign not provided 2025-01-21 criteria provided, single submitter clinical testing

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