ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.494_495del (p.His165fs)

dbSNP: rs1564719151
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003485634 SCV004238185 likely pathogenic Fanconi anemia complementation group C 2023-07-12 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722235 SCV000853366 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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