ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.9661G>A (p.Ala3221Thr)

gnomAD frequency: 0.00001  dbSNP: rs530008202
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
CeGaT Center for Human Genetics Tuebingen RCV000997680 SCV001153330 uncertain significance not provided 2020-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000997680 SCV002407285 benign not provided 2023-09-30 criteria provided, single submitter clinical testing

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