ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.1221T>A (p.Pro407=)

gnomAD frequency: 0.00016  dbSNP: rs140103226
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000931372 SCV000726733 likely benign not provided 2019-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002064266 SCV002400874 likely benign Ehlers-Danlos syndrome, musculocontractural type 2 2022-12-02 criteria provided, single submitter clinical testing

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