ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.5147G>T (p.Ser1716Ile)

gnomAD frequency: 0.00086  dbSNP: rs79925540
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001573503 SCV001827980 benign not provided 2019-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001573503 SCV005294765 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573503 SCV001799483 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001573503 SCV001957950 likely benign not provided no assertion criteria provided clinical testing

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