ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.106_107insCGC (p.Val36delinsAlaLeu)

gnomAD frequency: 0.01904  dbSNP: rs767539123
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001523726 SCV001733495 benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-11-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832727 SCV002091660 benign Niemann-Pick disease, type A 2019-09-25 no assertion criteria provided clinical testing

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