Submissions for variant NM_001289808.2(CRYAB):c.510C>T (p.Thr170=)

dbSNP: rs147970333

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150360	SCV000197478	likely benign	not specified	2014-01-30	criteria provided, single submitter	clinical testing	Thr170Thr in exon 3 of CRYAB: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Thr170Thr in exon 3 of CRYAB (allele frequen cy = n/a)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000525866	SCV000659172	likely benign	Dilated cardiomyopathy 1II	2024-09-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003162608	SCV003860436	likely benign	Cardiovascular phenotype	2022-12-14	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.
Clinical Genetics, Academic Medical Center	RCV000150360	SCV001921386	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727598	SCV001970666	likely benign	not provided		no assertion criteria provided	clinical testing