ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1356C>T (p.Asn452=)

gnomAD frequency: 0.00001  dbSNP: rs758508630
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001406991 SCV001608957 likely benign Niemann-Pick disease, type C1 2020-10-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001406991 SCV002095211 likely benign Niemann-Pick disease, type C1 2021-02-23 no assertion criteria provided clinical testing

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