ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.144C>T (p.Phe48=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003100268 SCV003482157 likely benign Ehlers-Danlos syndrome, musculocontractural type 2 2024-09-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434571 SCV004160024 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing DSE: BP4

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