ClinVar Miner

Submissions for variant NM_014862.4(ARNT2):c.1938C>T (p.Ser646=)

gnomAD frequency: 0.00005  dbSNP: rs201571391
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 RCV003090443 SCV003487487 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003090443 SCV005910430 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing ARNT2: BP4, BP7

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