ClinVar Miner

Submissions for variant NM_183357.3(ADCY5):c.996C>T (p.Thr332=)

gnomAD frequency: 0.00029  dbSNP: rs146379370
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 RCV000875955 SCV001018450 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000875955 SCV004701194 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ADCY5: BP4, BP7, BS2

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