ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1238C>G (p.Ala413Gly)

gnomAD frequency: 0.00015  dbSNP: rs560681030
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000914913 SCV001060102 likely benign not provided 2018-08-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258041 SCV002527797 likely benign Hereditary cancer-predisposing syndrome 2021-11-18 criteria provided, single submitter curation
Breakthrough Genomics, Breakthrough Genomics RCV000914913 SCV005222970 likely benign not provided criteria provided, single submitter not provided

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