ClinVar Miner

Submissions for variant NM_020632.3(ATP6V0A4):c.2481A>G (p.Pro827=)

gnomAD frequency: 0.00297  dbSNP: rs6956646
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000958994 SCV001105881 benign not provided 2023-12-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001164076 SCV001326172 likely benign Autosomal recessive distal renal tubular acidosis 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Fulgent Genetics, Fulgent Genetics RCV002489338 SCV002795391 likely benign Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 2021-07-20 criteria provided, single submitter clinical testing

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