ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.936G>A (p.Ala312=)

gnomAD frequency: 0.00004  dbSNP: rs543521325
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200481 SCV001371453 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005094065 SCV005828328 likely benign Ehlers-Danlos syndrome, musculocontractural type 2 2024-07-08 criteria provided, single submitter clinical testing

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