ClinVar Miner

Submissions for variant NM_198291.3(SRC):c.449+9C>T

gnomAD frequency: 0.00548  dbSNP: rs56182609
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000879336 SCV001022358 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001817058 SCV002067851 benign not specified 2018-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000879336 SCV005308716 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004757298 SCV005352308 benign SRC-related disorder 2024-05-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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