ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4191T>C (p.Asn1397=)

gnomAD frequency: 0.00003  dbSNP: rs1295475837
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001427741 SCV001630426 likely benign Landau-Kleffner syndrome 2024-10-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704549 SCV005217437 likely benign not provided criteria provided, single submitter not provided

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