ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.302A>G (p.Gln101Arg)

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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 RCV000845010 SCV000986841 not provided Neuropathy, hereditary motor and sensory, Okinawa type; Spastic paraplegia 57, autosomal recessive no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 01/00/1900 by 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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