ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1704C>T (p.Ala568=)

gnomAD frequency: 0.00001  dbSNP: rs761076380
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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 RCV001503310 SCV001708164 likely benign not provided 2023-11-25 criteria provided, single submitter clinical testing

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