Submissions for variant NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln)

gnomAD frequency: 0.00668  dbSNP: rs2634197

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001083426	SCV000631415	benign	Niemann-Pick disease, type B; Niemann-Pick disease, type A	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000596717	SCV000704669	benign	not specified	2016-12-15	criteria provided, single submitter	clinical testing
Counsyl	RCV000666736	SCV000791086	likely benign	Niemann-Pick disease, type A	2017-04-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000666736	SCV001260985	likely benign	Niemann-Pick disease, type A	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Mayo Clinic Laboratories, Mayo Clinic	RCV000675393	SCV000801063	benign	not provided	2018-02-08	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001272135	SCV001453795	benign	Sphingomyelin/cholesterol lipidosis	2020-09-16	no assertion criteria provided	clinical testing