ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.13197A>G (p.Leu4399=)

dbSNP: rs2152618031
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002114354 SCV002445087 likely benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2022-07-26 criteria provided, single submitter clinical testing

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