ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.6057A>G (p.Ser2019=)

gnomAD frequency: 0.00031  dbSNP: rs150970767
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 RCV002209024 SCV002359009 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507903 SCV002808262 likely benign Donnai-Barrow syndrome 2022-02-08 criteria provided, single submitter clinical testing

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