ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.4926G>A (p.Pro1642=)

gnomAD frequency: 0.00103  dbSNP: rs150021463
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193525 SCV000248866 uncertain significance not specified 2015-05-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000912670 SCV001057785 benign not provided 2018-07-09 criteria provided, single submitter clinical testing

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