ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn)

gnomAD frequency: 0.06693  dbSNP: rs12483377
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248578 SCV000314663 benign not specified criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000018655 SCV000745083 benign Knobloch syndrome 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711309 SCV000841650 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Mendelics RCV000018655 SCV001141313 likely benign Knobloch syndrome 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000711309 SCV001719504 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000711309 SCV001758268 benign not provided 2021-02-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11606364, 15714516, 16115201, 14695535, 15662127, 16807676, 26542764)
OMIM RCV000018655 SCV000038938 pathogenic Knobloch syndrome 2004-01-01 no assertion criteria provided literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000248578 SCV001807232 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000248578 SCV001919384 benign not specified no assertion criteria provided clinical testing

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