ClinVar Miner

Submissions for variant NM_031206.7(LAS1L):c.1269C>T (p.Thr423=)

gnomAD frequency: 0.00005  dbSNP: rs188766357
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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 RCV002064911 SCV002391426 benign Wilson-Turner syndrome 2024-10-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003992416 SCV004811243 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing LAS1L: BP4, BP7, BS2

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