ClinVar Miner

Submissions for variant NM_173651.4(FSIP2):c.11963C>T (p.Ser3988Phe)

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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 RCV004198959 SCV003699900 uncertain significance not specified 2021-09-01 criteria provided, single submitter clinical testing The c.12230C>T (p.S4077F) alteration is located in exon 17 (coding exon 17) of the FSIP2 gene. This alteration results from a C to T substitution at nucleotide position 12230, causing the serine (S) at amino acid position 4077 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003883930 SCV004698216 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing FSIP2: BP4

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