Submissions for variant NM_020632.3(ATP6V0A4):c.1812T>C (p.His604=)

gnomAD frequency: 0.65254  dbSNP: rs3807154

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249102	SCV000313641	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000394628	SCV000466904	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV001511901	SCV001719221	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000394628	SCV001775321	benign	Autosomal recessive distal renal tubular acidosis	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001511901	SCV001865849	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000249102	SCV001743756	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000249102	SCV001953742	benign	not specified		no assertion criteria provided	clinical testing