ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.628T>C (p.Leu210=)

gnomAD frequency: 0.00001  dbSNP: rs1036073348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516486 SCV000613521 uncertain significance not specified 2017-05-12 criteria provided, single submitter clinical testing
Invitae RCV001447734 SCV001650807 likely benign not provided 2023-05-09 criteria provided, single submitter clinical testing

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