Submissions for variant NM_000543.5(SMPD1):c.234C>T (p.Pro78=)

gnomAD frequency: 0.00002  dbSNP: rs575601110

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000728464	SCV000856043	uncertain significance	not provided	2017-07-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083296	SCV001042740	benign	Niemann-Pick disease, type B; Niemann-Pick disease, type A	2024-08-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002442552	SCV002732664	likely benign	Inborn genetic diseases	2022-06-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000728464	SCV005434617	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	SMPD1: BP4, BP7
Natera, Inc.	RCV001825448	SCV002091670	likely benign	Niemann-Pick disease, type A	2018-09-29	no assertion criteria provided	clinical testing