ClinVar Miner

Submissions for variant NM_001384528.1(GATAD2A):c.1491C>T (p.Pro497=)

gnomAD frequency: 0.00318  dbSNP: rs112281927
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000953386 SCV001099956 benign not provided 2017-12-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000953386 SCV004700453 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing GATAD2A: BP4, BP7, BS2

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