ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.1197G>A (p.Ala399=)

gnomAD frequency: 0.15569  dbSNP: rs11237599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713270 SCV000843859 benign not provided 2018-02-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000713270 SCV005321555 benign not provided criteria provided, single submitter not provided
Genetics Laboratory, Facudade de Medicina de Sao Jose do Rio Preto RCV000590913 SCV000598570 uncertain significance Autism 2016-01-01 no assertion criteria provided research

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