ClinVar Miner

Submissions for variant NM_004998.4(MYO1E):c.1415C>T (p.Ala472Val)

gnomAD frequency: 0.00001  dbSNP: rs371914169
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001195705 SCV001366109 uncertain significance Nephrotic syndrome 2018-09-28 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV002504222 SCV002817118 not provided Focal segmental glomerulosclerosis 6 no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 04-21-2022 by Lab or GTR ID Kristika Laboratories Pvt Ltd. 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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