ClinVar Miner

Submissions for variant NM_001693.4(ATP6V1B2):c.463+6T>G

gnomAD frequency: 0.97896  dbSNP: rs7460146
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554145 SCV001775328 benign Autosomal dominant deafness - onychodystrophy syndrome 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554146 SCV001775329 benign Zimmermann-Laband syndrome 2 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001673201 SCV001884754 benign not provided 2018-08-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001673201 SCV005266520 benign not provided criteria provided, single submitter not provided

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