ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5434C>G (p.Pro1812Ala)

gnomAD frequency: 0.08766  dbSNP: rs3736772
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248758 SCV000313707 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000248758 SCV000603595 benign not specified 2016-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521136 SCV001730407 benign Fanconi anemia 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001651242 SCV001866792 benign not provided 2019-02-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702400 SCV001933310 benign Premature ovarian failure 15 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701908 SCV001933311 benign Spermatogenic failure 28 2021-08-10 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001702400 SCV004015688 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651242 SCV005290486 benign not provided criteria provided, single submitter not provided

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