ClinVar Miner

Submissions for variant NM_001389.5(DSCAM):c.4521C>T (p.Thr1507=)

gnomAD frequency: 0.00255  dbSNP: rs199832149
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 RCV000971833 SCV001119503 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000971833 SCV004153665 benign not provided 2023-02-01 criteria provided, single submitter clinical testing DSCAM: BP4, BP7, BS1, BS2

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