ClinVar Miner

Submissions for variant NM_001690.4(ATP6V1A):c.1291-7dup

dbSNP: rs538710134
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002100282 SCV002387599 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507958 SCV002800378 likely benign Autosomal recessive cutis laxa type 2D; Developmental and epileptic encephalopathy 93 2021-08-06 criteria provided, single submitter clinical testing

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