ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.51T>C (p.Ala17=)

gnomAD frequency: 0.00002  dbSNP: rs546537919
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001730350 SCV004616972 likely benign not provided 2024-03-30 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001730351 SCV001978876 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001730350 SCV001980602 likely benign not provided no assertion criteria provided clinical testing

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