ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.4126G>C (p.Asp1376His)

gnomAD frequency: 0.00001  dbSNP: rs1255657939
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812318 SCV001471118 uncertain significance not provided 2020-02-09 criteria provided, single submitter clinical testing

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