ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.2651G>A (p.Arg884Gln)

gnomAD frequency: 0.00180  dbSNP: rs35363262
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827035 SCV000968647 likely benign not provided 2021-04-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078769 SCV001025933 likely benign Ehlers-Danlos syndrome, musculocontractural type 2 2024-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001078769 SCV002799276 likely benign Ehlers-Danlos syndrome, musculocontractural type 2 2022-02-11 criteria provided, single submitter clinical testing

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