ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1719C>A (p.Ile573=)

dbSNP: rs2128999629
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001486884 SCV001691365 likely benign RASopathy 2022-02-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495727 SCV002803036 likely benign Cardiofaciocutaneous syndrome 1; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer 2021-07-20 criteria provided, single submitter clinical testing

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