ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4372G>A (p.Asp1458Asn)

dbSNP: rs577270517
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235916 SCV001013626 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001552506 SCV001773205 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279585 SCV002565749 likely benign Ehlers-Danlos syndrome 2022-04-04 criteria provided, single submitter clinical testing

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