ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.240C>T (p.Ser80=)

gnomAD frequency: 0.00014  dbSNP: rs143347973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719046 SCV000727468 likely benign not provided 2019-04-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491286 SCV002802381 likely benign Ehlers-Danlos syndrome, musculocontractural type 2 2022-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002491286 SCV003270548 likely benign Ehlers-Danlos syndrome, musculocontractural type 2 2024-01-26 criteria provided, single submitter clinical testing

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