ClinVar Miner

Submissions for variant NM_024928.5(STN1):c.582-4G>A

gnomAD frequency: 0.01832  dbSNP: rs7097097
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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 RCV000947282 SCV001093454 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502908 SCV002804446 likely benign Cerebroretinal microangiopathy with calcifications and cysts 2 2022-01-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000947282 SCV005322431 benign not provided criteria provided, single submitter not provided

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