ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.298G>A (p.Asp100Asn)

gnomAD frequency: 0.00007  dbSNP: rs531614845
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001544578 SCV001763734 uncertain significance not provided 2021-02-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV001279886 SCV002816495 uncertain significance Renal tubular acidosis with progressive nerve deafness 2022-04-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279886 SCV001467022 uncertain significance Renal tubular acidosis with progressive nerve deafness 2020-06-22 no assertion criteria provided clinical testing

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