ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.489T>C (p.Ser163=)

dbSNP: rs2140891719
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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 RCV001466496 SCV001670498 likely benign Griscelli syndrome type 2 2024-10-13 criteria provided, single submitter clinical testing

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