ClinVar Miner

Submissions for variant NM_001888.5(CRYM):c.807T>C (p.Phe269=) (rs144588424)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155074 SCV000204758 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Phe269Phe in Exon 09 of CRYM: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.6% (42/7020) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs144588424).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000155074 SCV000339857 likely benign not specified 2016-03-08 criteria provided, single submitter clinical testing
Invitae RCV000887758 SCV001031338 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000887758 SCV001143648 benign not provided 2018-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000887758 SCV001911671 benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000155074 SCV001917035 benign not specified no assertion criteria provided clinical testing

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