ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=)

gnomAD frequency: 0.00468  dbSNP: rs149633292
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193475 SCV000246494 benign not specified 2016-03-02 criteria provided, single submitter clinical testing
Invitae RCV000890429 SCV001034175 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000890429 SCV001829292 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259732 SCV002539490 benign Intellectual disability, autosomal dominant 14 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002259732 SCV002802365 likely benign Intellectual disability, autosomal dominant 14 2021-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000890429 SCV003916070 benign not provided 2024-07-01 criteria provided, single submitter clinical testing ARID1A: BP4, BS1, BS2

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