ClinVar Miner

Submissions for variant NM_001372044.2(SHANK3):c.3959C>T (p.Ala1320Val)

gnomAD frequency: 0.00011  dbSNP: rs552332994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001572685 SCV001842632 benign not provided 2021-02-17 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572685 SCV001797436 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001572685 SCV001927313 likely benign not provided no assertion criteria provided clinical testing

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