ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2087C>T (p.Ala696Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003175526 SCV003876923 uncertain significance Inborn genetic diseases 2023-02-16 criteria provided, single submitter clinical testing The c.2087C>T (p.A696V) alteration is located in exon 12 (coding exon 11) of the INF2 gene. This alteration results from a C to T substitution at nucleotide position 2087, causing the alanine (A) at amino acid position 696 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779637 SCV004578546 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-01-02 criteria provided, single submitter clinical testing

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