ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.279+1G>A

dbSNP: rs67398234
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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 RCV002276560 SCV002565574 pathogenic Ehlers-Danlos syndrome 2018-11-01 criteria provided, single submitter clinical testing
OMIM RCV000018791 SCV000039074 pathogenic Ehlers-danlos syndrome, arthrochalasia type, 2 1994-01-01 no assertion criteria provided literature only

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