ClinVar Miner

Submissions for variant NM_001395656.1(ROBO2):c.3724G>A (p.Asp1242Asn)

gnomAD frequency: 0.00001  dbSNP: rs1333751060
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001290224 SCV001468588 uncertain significance Congenital anomaly of kidney and urinary tract 2021-01-09 criteria provided, single submitter curation This ROBO2 variant was reported as Likely pathogenic​ in PMID: 24429398 with original nomenclature reported as c.3712G>A, p.D1238N. Variant was re-classified as Uncertain Significance based on the criteria PM2_Supporting.

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