ClinVar Miner

Submissions for variant NM_002281.4(KRT81):c.735+4C>T

gnomAD frequency: 0.23428  dbSNP: rs12812669
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000056953 SCV001935679 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504956 SCV002808542 benign Beaded hair 2022-03-24 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056953 SCV000088066 not provided not provided no assertion provided not provided

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