ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.843G>A (p.Val281=)

dbSNP: rs1337941065
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001445042 SCV001648062 likely benign Neuronal ceroid lipofuscinosis 1 2024-02-26 criteria provided, single submitter clinical testing

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