ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.225C>T (p.Leu75=)

gnomAD frequency: 0.00001  dbSNP: rs781883009
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 RCV001522811 SCV001732423 benign Adrenoleukodystrophy 2023-02-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434306 SCV004167124 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing ABCD1: BP4, BP7

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