ClinVar Miner

Submissions for variant NM_024666.5(AAGAB):c.329T>A (p.Met110Lys)

gnomAD frequency: 0.00567  dbSNP: rs186662479
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000880150 SCV001023226 benign not provided 2023-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000880150 SCV004132734 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing AAGAB: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000880150 SCV005293064 benign not provided criteria provided, single submitter not provided

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