ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.189G>A (p.Ser63=)

gnomAD frequency: 0.00002  dbSNP: rs953029145
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278022 SCV002565859 uncertain significance Ehlers-Danlos syndrome 2022-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003096264 SCV003499028 likely benign Ehlers-Danlos syndrome, musculocontractural type 2 2024-10-16 criteria provided, single submitter clinical testing

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