ClinVar Miner

Submissions for variant NM_001852.4(COL9A2):c.1150A>C (p.Met384Leu)

gnomAD frequency: 0.00631  dbSNP: rs145327896
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249240 SCV000308357 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000966749 SCV000527978 benign not provided 2019-05-30 criteria provided, single submitter clinical testing
Invitae RCV000966749 SCV001114098 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278151 SCV002566403 likely benign Connective tissue disorder 2020-05-01 criteria provided, single submitter clinical testing

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