ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.108_109insGCG (p.Val36_Leu37insAla)

dbSNP: rs775568984
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634572 SCV000755902 benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-10-11 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731823 SCV001984029 benign not specified 2020-02-02 criteria provided, single submitter clinical testing
GeneDx RCV003128673 SCV003805803 likely benign not provided 2020-10-13 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Natera, Inc. RCV001835888 SCV002091666 benign Niemann-Pick disease, type A 2017-08-25 no assertion criteria provided clinical testing

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