ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3693C>T (p.Ala1231=)

dbSNP: rs1374064168
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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 RCV001280486 SCV001031069 likely benign Niemann-Pick disease, type C1 2022-06-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280486 SCV001467669 uncertain significance Niemann-Pick disease, type C1 2020-08-13 no assertion criteria provided clinical testing

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