ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.*1125A>T

gnomAD frequency: 0.66610  dbSNP: rs1134170
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000292278 SCV000478632 benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278633 SCV002565662 benign Ehlers-Danlos syndrome 2022-07-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718608 SCV005321613 benign not provided criteria provided, single submitter not provided

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