ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.2016G>A (p.Gln672=)

gnomAD frequency: 0.00005  dbSNP: rs772695668
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002591662 SCV003495388 likely benign Ehlers-Danlos syndrome, musculocontractural type 2 2022-05-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707814 SCV005225170 likely benign not provided criteria provided, single submitter not provided

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