ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.391G>A (p.Gly131Arg)

gnomAD frequency: 0.00010  dbSNP: rs200137992
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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 RCV000820755 SCV000961482 likely benign Dyskeratosis congenita 2024-01-17 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270120 SCV001448982 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2019-02-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001270120 SCV002055613 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2021-07-15 criteria provided, single submitter clinical testing

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