ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1178C>T (p.Ala393Val)

gnomAD frequency: 0.00001  dbSNP: rs547842083
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV001249353 SCV001423328 not provided Hereditary factor XI deficiency disease no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 01-06-2019 by Lab or GTR ID 26957. 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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