ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.432G>A (p.Lys144=)

gnomAD frequency: 0.00014  dbSNP: rs201994305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839672 SCV000981575 likely benign not provided 2021-05-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067512 SCV002411037 likely benign Oculodentodigital dysplasia, autosomal recessive 2024-01-25 criteria provided, single submitter clinical testing

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