ClinVar Miner

Submissions for variant NM_080473.5(GATA5):c.306C>T (p.Pro102=)

gnomAD frequency: 0.00088  dbSNP: rs539125153
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565434 SCV001788775 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001565434 SCV002341677 benign not provided 2023-12-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001565434 SCV005210067 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003956253 SCV004773390 likely benign GATA5-related disorder 2020-01-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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