ClinVar Miner

Submissions for variant NM_001374675.1(HSF4):c.925C>G (p.Leu309Val)

gnomAD frequency: 0.00115  dbSNP: rs201430635
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003424302 SCV004139946 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing HSF4: BP4, BS1
GenomeConnect, ClinGen RCV000709874 SCV000840211 not provided Cataract 5 multiple types no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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